Ozen Senem Ceren, Dagli Ulkü, Kiliç Mesut Yalin, Törüner Murat, Celik Yasemin, Ozkan Muhip, Soykan Irfan, Cetinkaya Hülya, Ulker Aysel, Ozden Ali, Bozdayi A Mithat
Institute of Biotechnology, Ankara University, Ankara, Turkey.
J Gastroenterol. 2006 Apr;41(4):304-10. doi: 10.1007/s00535-005-1780-z.
The genetic susceptibility of people with certain NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene variants to inflammatory bowel disease is still under investigation. The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020insC), NOD1/CARD4 (E266K, D372N), and ICAM-1 (G241R, K469E) genes, which are known to be associated with inflammation, in Turkish patients with inflammatory bowel disease and healthy control groups.
The genotypes of 70 patients with endoscopically and histopathologically diagnosed Crohn's disease (38 men, 32 women; mean age, 38.8 +/- 1.3), 120 patients with ulcerative colitis (67 men, 53 women; mean age, 41.7 +/- 1.3) and 106 healthy control subjects (37 men, 69 women; mean age, 35.7 +/- 1.4), who stated that they had never had any prior bowel disease history, were compared. A polymerase chain reaction-restriction fragment length polymorphism analysis was performed for two variants of the ICAM-1 gene, the three main variants of the NOD2/CARD15 gene, and the E266K variant of the NOD1/CARD4 gene, and DNA sequencing was used for the D372N polymorphism of the NOD1/CARD4 gene.
In this study, the three previously described Crohn's disease-predisposing variants of the NOD2/CARD15 gene and the polymorphisms examined in the NOD1/CARD4 and ICAM-1 genes were not found to be associated with ulcerative colitis or Crohn's disease.
These findings suggest that the polymorphisms observed in the NOD2/CARD15, NOD1/CARD4, and ICAM-1 genes are not genetic susceptibility factors for Crohn's disease or ulcerative colitis in Turkey.
携带某些NOD2/CARD15、NOD1/CARD4和ICAM - 1基因变异的人群对炎症性肠病的遗传易感性仍在研究中。本研究的目的是调查NOD2/CARD15（R702W、G908R和3020insC）、NOD1/CARD4（E266K、D372N）和ICAM - 1（G241R、K469E）基因的多态性，这些基因已知与炎症相关，研究对象为土耳其炎症性肠病患者和健康对照组。
比较70例经内镜和组织病理学诊断为克罗恩病的患者（38例男性，32例女性；平均年龄38.8±1.3岁）、120例溃疡性结肠炎患者（67例男性，53例女性；平均年龄41.7±1.3岁）和106名健康对照者（37例男性，69例女性；平均年龄35.7±1.4岁）的基因型，这些健康对照者表示他们既往从未有过任何肠道疾病史。对ICAM - 1基因的两个变异体、NOD2/CARD15基因的三个主要变异体以及NOD1/CARD4基因的E266K变异体进行聚合酶链反应 - 限制性片段长度多态性分析，对NOD1/CARD4基因的D372N多态性采用DNA测序。
在本研究中，未发现先前描述的NOD2/CARD15基因的三个克罗恩病易感变异体以及在NOD1/CARD4和ICAM - 1基因中检测的多态性与溃疡性结肠炎或克罗恩病相关。
这些发现表明，在土耳其，NOD2/CARD15、NOD1/CARD4和ICAM - 1基因中观察到的多态性不是克罗恩病或溃疡性结肠炎的遗传易感因素。
